Canonical Allele Identifier: CA2609821976

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77999965-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999965C>A , CM000672.2:g.77999965C>A	GRCh38
NC_000010.10:g.79759723C>A , CM000672.1:g.79759723C>A	GRCh37
NC_000010.9:g.79429729C>A	NCBI36
NG_029648.1:g.34576G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1676+16G>T
ENST00000698728.1:n.2195+16G>T
ENST00000698729.1:n.3741+16G>T
ENST00000698730.1:n.3741+16G>T
ENST00000698731.1:c.2475+16G>T	ENSP00000513898.1:n.2475+16G>T
ENST00000698732.1:c.*1477+16G>T	ENSP00000513899.1:n.*1477+16G>T
ENST00000698733.1:c.*1803+16G>T	ENSP00000513900.1:n.*1803+16G>T
ENST00000698734.1:c.2616+16G>T	ENSP00000513901.1:n.2616+16G>T
ENST00000698735.1:n.2731+16G>T
ENST00000698736.1:n.2731+16G>T
ENST00000698737.1:n.2731+16G>T
ENST00000698738.1:n.2731+16G>T
ENST00000698739.1:n.2731+16G>T
ENST00000372371.8:c.2616+16G>T MANE Select	ENSP00000361446.3:n.2616+16G>T
ENST00000372371.7:c.2616+16G>T	ENSP00000361446.3:n.2616+16G>T
ENST00000472014.5:n.469+4751G>T
NM_007055.3:c.2616+16G>T	NP_008986.2:n.2616+16G>T
NM_007055.4:c.2616+16G>T MANE Select	NP_008986.2:n.2616+16G>T